Deafness with Labyrinthine Aplasia, Microtia, and Microdontia

Alias:
Hearing Loss with Labyrinthine Aplasia, Microtia, and Microdontia
Microdontia-Type I Microtia-Hearing Loss Syndrome
Microdontia-Type I Microtia-Deafness Syndrome
Lamm Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Deafness with Labyrinthine Aplasia, Microtia, and Microdontia, also known as hearing loss with labyrinthine aplasia, microtia, and microdontia, is related to deafness, congenital, with inner ear agenesis, microtia, and microdontia and pyridoxamine 5-prime-phosphate oxidase deficiency. An important gene associated with Deafness with Labyrinthine Aplasia, Microtia, and Microdontia is FGF3 (Fibroblast Growth Factor 3). Affiliated tissues include eye and skin, and related phenotypes are hearing impairment and widely spaced teeth
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
1
13
4

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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IF
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